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Congenital absence of part of brain

MedGen UID:
539932
•Concept ID:
C0266461
•
Congenital Abnormality
Synonyms: Agenesis of part of brain; Congenital aplasia of part of brain
SNOMED CT: Congenital absence of part of brain (26595007); Agenesis of part of brain (26595007); Congenital aplasia of part of brain (26595007)

Recent clinical studies

Etiology

The effects of cerebral oximetry in mechanically ventilated newborns: a protocol for the SafeBoosC-IIIv randomised clinical trial.
Vestager ML, Hansen ML, Rasmussen MI, Hahn GH, Hyttel-Sørensen S, Pellicer A, Heuchan AM, Hagmann C, Dempsey E, Dimitriou G, Pichler G, Naulaers G, Fuchs H, Tkaczyk J, Mintzer J, Fumagalli M, Nesargi S, Fredly S, Szczapa T, Gluud C, Jakobsen JC, Greisen G
Trials 2023 Oct 28;24(1):696. doi: 10.1186/s13063-023-07699-x. PMID: 37898759Free PMC Article
Disturbed Balance of Inhibitory Signaling Links Hearing Loss and Cognition.
Knipper M, Singer W, Schwabe K, Hagberg GE, Li Hegner Y, Rüttiger L, Braun C, Land R
Front Neural Circuits 2021;15:785603. Epub 2022 Jan 6 doi: 10.3389/fncir.2021.785603. PMID: 35069123Free PMC Article
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages.
Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
Development of the Visual Word Form Area Requires Visual Experience: Evidence from Blind Braille Readers.
Kim JS, Kanjlia S, Merabet LB, Bedny M
J Neurosci 2017 Nov 22;37(47):11495-11504. Epub 2017 Oct 23 doi: 10.1523/JNEUROSCI.0997-17.2017. PMID: 29061700Free PMC Article

Diagnosis

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages.
Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
Cretinism presenting as a pseudotumour.
Mahesh DM, Jebasingh FK, Baruah MP, Thomas N
BMJ Case Rep 2015 Jan 9;2015 doi: 10.1136/bcr-2014-206124. PMID: 25576505Free PMC Article
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?
Nowak DA, Trost HA
Acta Neurol Scand 2002 Mar;105(3):137-45. doi: 10.1034/j.1600-0404.2002.1r127.x. PMID: 11886354
Congenital absence of pain.
Manfredi M, Bini G, Cruccu G, Accornero N, Berardelli A, Medolago L
Arch Neurol 1981 Aug;38(8):507-11. doi: 10.1001/archneur.1981.00510080069010. PMID: 6166287

Therapy

The effects of cerebral oximetry in mechanically ventilated newborns: a protocol for the SafeBoosC-IIIv randomised clinical trial.
Vestager ML, Hansen ML, Rasmussen MI, Hahn GH, Hyttel-Sørensen S, Pellicer A, Heuchan AM, Hagmann C, Dempsey E, Dimitriou G, Pichler G, Naulaers G, Fuchs H, Tkaczyk J, Mintzer J, Fumagalli M, Nesargi S, Fredly S, Szczapa T, Gluud C, Jakobsen JC, Greisen G
Trials 2023 Oct 28;24(1):696. doi: 10.1186/s13063-023-07699-x. PMID: 37898759Free PMC Article
Cretinism presenting as a pseudotumour.
Mahesh DM, Jebasingh FK, Baruah MP, Thomas N
BMJ Case Rep 2015 Jan 9;2015 doi: 10.1136/bcr-2014-206124. PMID: 25576505Free PMC Article
The cortical somatotopic map and phantom phenomena in subjects with congenital limb atrophy and traumatic amputees with phantom limb pain.
Montoya P, Ritter K, Huse E, Larbig W, Braun C, Töpfner S, Lutzenberger W, Grodd W, Flor H, Birbaumer N
Eur J Neurosci 1998 Mar;10(3):1095-102. doi: 10.1046/j.1460-9568.1998.00122.x. PMID: 9753177
Phantom limb experiences in congenital limb-deficient adults.
Saadah ES, Melzack R
Cortex 1994 Sep;30(3):479-85. doi: 10.1016/s0010-9452(13)80343-7. PMID: 7805388

Prognosis

The effects of cerebral oximetry in mechanically ventilated newborns: a protocol for the SafeBoosC-IIIv randomised clinical trial.
Vestager ML, Hansen ML, Rasmussen MI, Hahn GH, Hyttel-Sørensen S, Pellicer A, Heuchan AM, Hagmann C, Dempsey E, Dimitriou G, Pichler G, Naulaers G, Fuchs H, Tkaczyk J, Mintzer J, Fumagalli M, Nesargi S, Fredly S, Szczapa T, Gluud C, Jakobsen JC, Greisen G
Trials 2023 Oct 28;24(1):696. doi: 10.1186/s13063-023-07699-x. PMID: 37898759Free PMC Article
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T
HGG Adv 2023 Jan 12;4(1):100157. Epub 2022 Nov 1 doi: 10.1016/j.xhgg.2022.100157. PMID: 36408368Free PMC Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ
Clin Genet 2020 Apr;97(4):556-566. Epub 2020 Jan 30 doi: 10.1111/cge.13706. PMID: 31957011Free PMC Article
Development of the Visual Word Form Area Requires Visual Experience: Evidence from Blind Braille Readers.
Kim JS, Kanjlia S, Merabet LB, Bedny M
J Neurosci 2017 Nov 22;37(47):11495-11504. Epub 2017 Oct 23 doi: 10.1523/JNEUROSCI.0997-17.2017. PMID: 29061700Free PMC Article
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Braissant O, Henry H
J Inherit Metab Dis 2008 Apr;31(2):230-9. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0826-9. PMID: 18392746

Clinical prediction guides

Small pituitary volume and central nervous system anomalies in Fanconi Anemia.
Corredor B, Solís I, Zubicaray J, Sevilla J, Argente J
Front Endocrinol (Lausanne) 2024;15:1385650. Epub 2024 Aug 19 doi: 10.3389/fendo.2024.1385650. PMID: 39224124Free PMC Article
The effects of cerebral oximetry in mechanically ventilated newborns: a protocol for the SafeBoosC-IIIv randomised clinical trial.
Vestager ML, Hansen ML, Rasmussen MI, Hahn GH, Hyttel-Sørensen S, Pellicer A, Heuchan AM, Hagmann C, Dempsey E, Dimitriou G, Pichler G, Naulaers G, Fuchs H, Tkaczyk J, Mintzer J, Fumagalli M, Nesargi S, Fredly S, Szczapa T, Gluud C, Jakobsen JC, Greisen G
Trials 2023 Oct 28;24(1):696. doi: 10.1186/s13063-023-07699-x. PMID: 37898759Free PMC Article
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T
HGG Adv 2023 Jan 12;4(1):100157. Epub 2022 Nov 1 doi: 10.1016/j.xhgg.2022.100157. PMID: 36408368Free PMC Article
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages.
Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Braissant O, Henry H
J Inherit Metab Dis 2008 Apr;31(2):230-9. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0826-9. PMID: 18392746

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